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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities
Authors:Blake C Ballif  Aaron Theisen  Ryan N Traylor  Devon Lamb Thrush  Caroline Astbury  Dennis Bartholomew  Kim L McBride  Robert E Pyatt  Kate Shane  Wendy E Smith  William B Gallentine  M Katharine Rudd  Julia A Keene  Jean P Pfotenhauer  Pawel Stankiewicz  Bassem A Bejjani
Institution:1 Signature Genomic Laboratories, Spokane, WA 99207, USA
2 Department of Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43209, USA
3 Department of Pathology, The Ohio State University, Columbus, OH 43209, USA
4 Department of Pediatrics, The Ohio State University, Columbus, OH 43209, USA
5 Section of Genetics, Nationwide Children's Hospital, Columbus, OH 43209, USA
6 Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43209, USA
7 Department of Pediatrics, Maine Pediatric Specialty Group, Portland, ME 04102, USA
8 Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
9 Weisskopf Child Evaluation Center, University of Louisville, Louisville, KY 40202, USA
10 Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
11 Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
12 Division of Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
13 Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
14 Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland
Abstract:
Keywords:
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